CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.020 None 1.000 2 2018 2018
CUI: C0004277
Disease: Tooth Attrition
Tooth Attrition
disease Stomatognathic Diseases Acquired Abnormality 66 5 0.010 None 1.000 1 2009 2009
CUI: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.010 None 1.000 1 2020 2020
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2006 2006
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 75 33 0.010 None 1.000 1 2019 2019
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2003 2003
CUI: C0376154
Disease: Skin callus
Skin callus
disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2017 2017
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.030 None 1.000 3 2004 2011
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2018 2018
Morphologically abnormal structure (morphologic abnormality)
group Anatomical Abnormality 20 0.010 None 1.000 1 2005 2005
CUI: C0853954
Disease: Corneal calcification
Corneal calcification
phenotype Anatomical Abnormality 10 0.010 None 1.000 1 2017 2017
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system
disease Anatomical Abnormality 16 0.100 None 0
CUI: C1449861
Disease: Micronuclei, Chromosome-Defective
Micronuclei, Chromosome-Defective
phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2016 2016
CUI: C1449862
Disease: Micronuclei, Genotoxicant-Induced
Micronuclei, Genotoxicant-Induced
phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2016 2016
CUI: C0040715
Disease: Chromosomal translocation
Chromosomal translocation
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2 0.300 None 1.000 2 2011 2011
CUI: C0008628
Disease: Chromosome Deletion
Chromosome Deletion
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2 0.300 None 1.000 1 2011 2011
CUI: C0025568
Disease: Metaplasia
Metaplasia
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 52 0.010 None 1.000 1 2007 2007
CUI: C0041107
Disease: Trisomy
Trisomy
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 1 0.300 None 1.000 1 2011 2011
CUI: C2930745
Disease: Partial Monosomy
Partial Monosomy
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2 0.300 None 1.000 1 2011 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 1.000 11 1995 2017
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.080 None 1.000 8 1995 2020
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.060 None 1.000 6 2000 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.060 None 1.000 6 2000 2018
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.030 None 1.000 3 2011 2017
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.030 None 1.000 3 2000 2005